Deleterious effect to human genes by meiotic recombination

• Project/Area Number: 22710190
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Medical genome science
• Research Institution: Tohoku University
• Principal Investigator: MAKINO Takashi 東北大学, 大学院・生命科学研究科, 助教 (20443442)
• Project Period (FY): 2010 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000); Fiscal Year 2011: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2010: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
• Keywords: 相同組替え / 疾患関連遺伝子

Research Abstract

The results in this study suggest that those functional regions of the human genome which are subject to high recombination rates may experience an elevated rate of deleterious point mutation and hence are more likely to become implicated in inherited disease, particularly in the case of those diseases that are caused by rare genomic variants.

Research Products

• [Journal Article] Comprehensive Primer Design for Analysis of Population Genetics in Non-Sequenced Organisms (2012)
  • Author(s): Tezuka A, Matsushima N, Nemoto Y, Akashi HD, Kawata M and Makino T
  • Journal Title: PLoS ONE Volume: 7(2)
  • Peer Reviewed
• [Journal Article] Comprehensive Primer Design for Analysis of Population Genetics in Non-Sequenced Organisms (2012)
  • Author(s): Tezuka, A.N.Matsushima, Y.Nemoto, H.D.Akashi, M.Kawata, T.Makino
  • Journal Title: PLoS ONE Volume: 7 Issue: 2 Pages: e32314-e32314
  • DOI: 10.1371/journal.pone.0032314
  • Peer Reviewed
• [Presentation] Genome-wide coldspots for gene copy number variation in vertebrates (2011)
  • Author(s): Takashi Makino
  • Organizer: Society for Molecular Biology and Evolution
  • Place of Presentation: Kyoto, Japan
  • Year and Date: 2011-07-28
• [Presentation] Genome-wide coldspots for gene copy number variation in vertebrates (2011)
  • Author(s): Takashi Makino
  • Organizer: THE BIOLOGY OF GENOMES, Cold Spring Harbor Laboratory
  • Place of Presentation: New York, USA
  • Year and Date: 2011-05-26
• [Presentation] 脊椎動物ゲノムにおけるコピー数多型コールドスポット (2011)
  • Author(s): 牧野能士
  • Organizer: 遺伝研研究集会「次世代シーケンサー時代の分子進化研究」
  • Place of Presentation: 静岡(招待講演)
  • Year and Date: 2011-04-27
• [Presentation] Drosophila species distributions correlate with their genomic structure (2011)
  • Author(s): Makino T and Kawata M
  • Organizer: Young Researchers Conference on Evolutionary Genomics
  • Place of Presentation: Tokyo, Japan
• [Presentation] Genome-Wide Coldspots For Gene Copy Number Variation In Vertebrates (2011)
  • Author(s): Makino T
  • Organizer: Society for Molecular Biology and Evolution (SMBE)
  • Place of Presentation: Kyoto, Japan
• [Presentation] Evidence that meiotic recombination causes deleterious point mutations in humans (2010)
  • Author(s): Matthew T.Webster
  • Organizer: Annual Meeting of the Society for Molecular Biology and Evolution
  • Place of Presentation: Lyon, France
  • Year and Date: 2010-07-05
• [Presentation] Evidence that meiotic recombination causes deleterious point mutations in humans (2010)
  • Author(s): Matthew T, Makino T, McLysaght A, Necsulea A, Ball EV, Cooper DN and Duret L
  • Organizer: Society for Molecular Biology and Evolution (SMBE)
  • Place of Presentation: Lyon, France
• [Presentation] Ohnologs in the human genome are dosage balanced and frequently associated with disease (2010)
  • Author(s): Makino T and McLysaght A
  • Organizer: Society for Molecular Biology and Evolution (SMBE)
  • Place of Presentation: Lyon, France
• [Remarks]
  • URL: http://meme.biology.tohoku.ac.jp/klabo-wiki/index.php?Klabo-Wiki
• [Remarks]
  • URL: http://meme.biology.tohoku.ac.jp/klabo-wiki/